My Journey to a Friedreich’s Ataxia Diagnosis, Part 2

Second in a series. In a previous column, I discussed my active childhood and early signs that something wasn’t right.

As the evidence began to pile up, I started to accept that someone who has been extremely active her entire life doesn’t suddenly become uncoordinated. I decided it was time for some answers. When I searched “loss of balance” online, I came up with an inner ear problem.

So, I saw an ear, nose, and throat doctor who said, “There’s definitely something going on here, but from what I can see, your ears look perfect. We can do an MRI just to double check.” When the MRI came back normal, I stopped looking for answers and moved on.

I didn’t play the next season of softball, but I kept playing sand volleyball. I continued to work out to try to improve my balance. I had a lot of trouble with my ankles growing up (miscellaneous injuries such as bone chips and sprains), but I ignored the signs. I thought that I just had weak ankles. I did a lot of stretching and work on balance boards to try to build them up. But that didn’t work. I was still out of balance.

Two incidents in late April 2013 stand out. One evening, I had a margarita while out with a big group of family and friends. I wasn’t drunk, but I’m a lightweight — one margarita is usually enough to affect me a little. When we were leaving, one member of our party noticed I was walking weirdly. She joked about how it was good we were leaving because I couldn’t walk straight. She said, “Time to cut Kendall off!” in a lighthearted way. I laughed it off but secretly thought, “Oh no, my balance is getting worse. It’s getting noticeable.” I was terrified.

The next week, I took my dog for a run instead of going to the gym. We took a warmup walk through the neighborhood to reach my favorite path around the high school stadium. I stretched and then — nothing. I couldn’t remember how to run. My legs couldn’t do the movements. I walked the dog home and went to the computer to search for a doctor. I found an internal medicine general practitioner with amazing reviews and booked an appointment for the following week.

At my appointment, I had my first neurological exam. I was terrified to see how symptomatic I was. The doctor agreed that something was going on and said that it was probably neurological, but she wanted to rule some things out first. She drew blood to test for an array of deficiencies, intolerances, and abnormalities. She checked for copper, gluten, vitamin D, and about 20 others. All of the results were normal so she referred me to a neurologist.

My mom came with me to the appointment. I had another, more thorough, exam. The doctor asked if I had any speech changes. I said, “Not that I’ve noticed.” My mom said, “Well, she talks more slowly than she used to, but we thought she was just maturing beyond high school Valley girl talk.” The doctor said, “I definitely think something is going on here. I’m not sure what. It could be an allergy, a tumor, a movement disorder, or something genetic.”

My mom and I both said, “Well, it can’t be genetic because everyone in my family is fine. What genetic possibilities are there?” He mentioned a specific disease. That night I searched “Frederick movement disorder.” I was directed to the Friedreich’s ataxia Wikipedia page. It terrified me, but I thought, “No way that’s me. I’m 25. This says people get symptomatic at age 13 to 17 on average and are in a wheelchair by their 20s.”

I went for my follow-up appointment to discuss additional testing. My doctor assured me that we would figure this out together and that everything would be OK.

He ran another blood panel. I convinced myself I had celiac disease, which when left undiagnosed can have neurological effects. I prayed that my treatment was as “easy” as adopting a gluten-free diet. The panels all came back normal.

Next up was another MRI. This time, they scanned my head, neck, and back. I had convinced myself it was multiple sclerosis or a tumor. But those tests came back normal, too.

The following week, I had a blood test for genetic diseases. I received a call from my doctor’s office on Monday morning, Aug. 19, 2013, to schedule an appointment for that afternoon to discuss my genetic panel results. Kyle and my parents came to the appointment with me.

Next week: Finding hope after my diagnosis.

***

Friedreich’s Ataxia News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or another qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.